EDS National Diagnostic Service

The Ehlers-Danlos Syndrome National Diagnostic Service is a specialist service for individuals and families who are suspected to have complex Ehlers-Danlos Syndrome (EDS). The two branches of this service are based at Sheffield Northern General Hospital and the Northwick Park & St Mark's Hospitals in London.

 

Description of service

 

They aim to provide excellent holistic care for all adults and children with EDS. The first step is accurate diagnosis and they strive to incorporate new diagnostic techniques and developments in their practice.

 

Once you have been referred to the clinic you will be telephoned by the genetic counsellor to gather information for the clinic and discuss your questions or concerns. At the appointment you will discuss your medical history and family history with the consultant and have a physical examination.

 

You may be offered a test such as a genetic blood test or skin biopsy.

  

Referrals are accepted from Consultants in Secondary/Tertiary care for patients (adults and children) in whom the diagnosis of EDS is suspected but not confirmed for one of the following reasons:

 

  • Diagnostic criteria according to Villefranche Classification not met
  • Diagnostic testing does not confirm diagnosis suspected
  • Diagnostic criteria of more than one type of EDS is suspected
  • Significant additional findings aside from diagnostic criteria
  • Referrals are also accepted where the patient or Clinician requests a second opinion after initial consultation

What is a genetic counsellor?

Genetic counsellors can give people information about genetic conditions and how they are inherited, and they work very closely with clinical geneticists. Clinical geneticists are qualified to diagnose genetic conditions.

 

The role of a genetic counsellor is to help a family to understand better the implications of a diagnosis of a genetic condition in a family. This includes helping the family to understand who else in the family might be at risk and how the condition is inherited. They may also help the family to make decisions about management of the condition.

 

For certain forms of EDS, there are tests available during pregnancy, and some people may wish to discuss these with their genetic counsellor. By exploring available options, families can make their own informed decisions about pregnancy and other matters.

What are the possible benefits of genetic counselling?

Families who have had genetic counselling report that it can help them to:

• Gain a better understanding of the condition in the family

• Make decisions about the condition in the family

• Talk about the condition to other people in the family who might be at risk

• Take action to better manage the family condition

• Communicate with health professionals, teachers, social workers etc. about their needs.

 

Different people may handle genetic information in different ways, depending on their own personal beliefs and their past experiences. Genetic counsellors can help individuals to make their own decisions in the context of their own unique medical, moral and social situation.

 

What happens at a Genetics Clinic appointment?

Practice may vary between genetic centres, but a genetics consultation will usually last between 30 and 45 minutes. It may involve one or more of the following:

• Discussing your particular concerns

• Discussing your medical history

• Drawing your family tree, which can give valuable information that can help make a definite diagnosis, and identify who else may be at risk in the family.

 

It is therefore useful to find out as much as you can from your relatives prior to your appointment, and that you bring this information with you when you come for your appointment.

 

If you have been referred because you or your child is suspected of having EDS, then your appointment will involve a physical examination. A doctor will examine your skin looking for scars, and determine how stretchy and soft your skin is. S/he will also assess your joints, and how bendy they are. The doctor may wish to take some photographs of your skin and joints, with your permission. These will form part of your medical record, and if necessary, will enable the doctor to discuss your case with colleagues.

 

The doctor will then assess how likely it is that EDS may be present in your family. It may not be possible to determine this for certain at your first appointment. There are many types of EDS, and sometimes further tests are required before a diagnosis can be made. So it is possible that you may need to come to the Genetics Clinic more than once.

 

If and when a definite diagnosis is made, the counsellor/doctor can then explain things in more detail, and try to help you understand the facts, in everyday language.

The two EDS Diagnostic Centres are located in London and Sheffield



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